Canonical Allele Identifier: CA124112
Gene: LAMB2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14534
ClinVar RCV Id: RCV000015633
dbSNP Id: rs121912491

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49131128C>T , CM000665.2:g.49131128C>T GRCh38
NC_000003.10:g.49143565C>T NCBI36
NC_000003.11:g.49168561C>T , CM000665.1:g.49168561C>T GRCh37
NG_008094.1:g.7039G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000305544.8:c.737G>A ENSP00000307156.4:p.Arg246Gln
ENST00000418109.5:c.737G>A ENSP00000388325.1:p.Arg246Gln
ENST00000494831.1:c.290G>A ENSP00000444751.1:p.Arg97Gln
NM_002292.3:c.737G>A VV NP_002283.3:p.Arg246Gln
XM_005265127.3:c.737G>A XP_005265184.1:p.Arg246Gln